Patrick M Gaffney

Patrick M Gaffney

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Patrick M Gaffney

Patrick M Gaffney

Publications by authors named "Patrick M Gaffney"

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From association to mechanism in complex disease genetics: the role of the 3D genome.

Arthritis Res Ther 2018 09 29;20(1):216. Epub 2018 Sep 29.

Division of Genomics and Data Sciences, Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, 825 Northeast 13th Street, Oklahoma City, OK, 73104, USA.

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http://dx.doi.org/10.1186/s13075-018-1721-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6162955PMC
September 2018

A plausibly causal functional lupus-associated risk variant in the STAT1-STAT4 locus.

Hum Mol Genet 2018 07;27(13):2392-2404

Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1093/hmg/ddy140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6005081PMC
July 2018

βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy.

Am J Hum Genet 2018 06 31;102(6):1158-1168. Epub 2018 May 31.

Department of Neuroscience and Integrative Molecular and Biomedical Sciences Graduate Program, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.04.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992132PMC
June 2018

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Authors:
Daniela A Braun Jia Rao Geraldine Mollet David Schapiro Marie-Claire Daugeron Weizhen Tan Olivier Gribouval Olivia Boyer Patrick Revy Tilman Jobst-Schwan Johanna Magdalena Schmidt Jennifer A Lawson Denny Schanze Shazia Ashraf Jeremy F P Ullmann Charlotte A Hoogstraten Nathalie Boddaert Bruno Collinet Gaëlle Martin Dominique Liger Svjetlana Lovric Monica Furlano I Chiara Guerrera Oraly Sanchez-Ferras Jennifer F Hu Anne-Claire Boschat Sylvia Sanquer Björn Menten Sarah Vergult Nina De Rocker Merlin Airik Tobias Hermle Shirlee Shril Eugen Widmeier Heon Yung Gee Won-Il Choi Carolin E Sadowski Werner L Pabst Jillian K Warejko Ankana Daga Tamara Basta Verena Matejas Karin Scharmann Sandra D Kienast Babak Behnam Brendan Beeson Amber Begtrup Malcolm Bruce Gaik-Siew Ch'ng Shuan-Pei Lin Jui-Hsing Chang Chao-Huei Chen Megan T Cho Patrick M Gaffney Patrick E Gipson Chyong-Hsin Hsu Jameela A Kari Yu-Yuan Ke Cathy Kiraly-Borri Wai-Ming Lai Emmanuelle Lemyre Rebecca Okashah Littlejohn Amira Masri Mastaneh Moghtaderi Kazuyuki Nakamura Fatih Ozaltin Marleen Praet Chitra Prasad Agnieszka Prytula Elizabeth R Roeder Patrick Rump Rhonda E Schnur Takashi Shiihara Manish D Sinha Neveen A Soliman Kenza Soulami David A Sweetser Wen-Hui Tsai Jeng-Daw Tsai Rezan Topaloglu Udo Vester David H Viskochil Nithiwat Vatanavicharn Jessica L Waxler Klaas J Wierenga Matthias T F Wolf Sik-Nin Wong Sebastian A Leidel Gessica Truglio Peter C Dedon Annapurna Poduri Shrikant Mane Richard P Lifton Maxime Bouchard Peter Kannu David Chitayat Daniella Magen Bert Callewaert Herman van Tilbeurgh Martin Zenker Corinne Antignac Friedhelm Hildebrandt

Nat Genet 2017 Oct 14;49(10):1529-1538. Epub 2017 Aug 14.

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

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http://www.nature.com/doifinder/10.1038/ng.3933
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http://dx.doi.org/10.1038/ng.3933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5819591PMC
October 2017

Transancestral mapping and genetic load in systemic lupus erythematosus.

Authors:
Carl D Langefeld Hannah C Ainsworth Deborah S Cunninghame Graham Jennifer A Kelly Mary E Comeau Miranda C Marion Timothy D Howard Paula S Ramos Jennifer A Croker David L Morris Johanna K Sandling Jonas Carlsson Almlöf Eduardo M Acevedo-Vásquez Graciela S Alarcón Alejandra M Babini Vicente Baca Anders A Bengtsson Guillermo A Berbotto Marc Bijl Elizabeth E Brown Hermine I Brunner Mario H Cardiel Luis Catoggio Ricard Cervera Jorge M Cucho-Venegas Solbritt Rantapää Dahlqvist Sandra D'Alfonso Berta Martins Da Silva Iñigo de la Rúa Figueroa Andrea Doria Jeffrey C Edberg Emőke Endreffy Jorge A Esquivel-Valerio Paul R Fortin Barry I Freedman Johan Frostegård Mercedes A García Ignacio García de la Torre Gary S Gilkeson Dafna D Gladman Iva Gunnarsson Joel M Guthridge Jennifer L Huggins Judith A James Cees G M Kallenberg Diane L Kamen David R Karp Kenneth M Kaufman Leah C Kottyan László Kovács Helle Laustrup Bernard R Lauwerys Quan-Zhen Li Marco A Maradiaga-Ceceña Javier Martín Joseph M McCune David R McWilliams Joan T Merrill Pedro Miranda José F Moctezuma Swapan K Nath Timothy B Niewold Lorena Orozco Norberto Ortego-Centeno Michelle Petri Christian A Pineau Bernardo A Pons-Estel Janet Pope Prithvi Raj Rosalind Ramsey-Goldman John D Reveille Laurie P Russell José M Sabio Carlos A Aguilar-Salinas Hugo R Scherbarth Raffaella Scorza Michael F Seldin Christopher Sjöwall Elisabet Svenungsson Susan D Thompson Sergio M A Toloza Lennart Truedsson Teresa Tusié-Luna Carlos Vasconcelos Luis M Vilá Daniel J Wallace Michael H Weisman Joan E Wither Tushar Bhangale Jorge R Oksenberg John D Rioux Peter K Gregersen Ann-Christine Syvänen Lars Rönnblom Lindsey A Criswell Chaim O Jacob Kathy L Sivils Betty P Tsao Laura E Schanberg Timothy W Behrens Earl D Silverman Marta E Alarcón-Riquelme Robert P Kimberly John B Harley Edward K Wakeland Robert R Graham Patrick M Gaffney Timothy J Vyse

Nat Commun 2017 07 17;8:16021. Epub 2017 Jul 17.

Divisions of Genetics and Molecular Medicine and Immunology, Infection and Inflammatory Diseases, King's College London, Guy's Hospital, London SE1 9RT, UK.

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http://dx.doi.org/10.1038/ncomms16021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5520018PMC
July 2017

Identification of a Sjögren's syndrome susceptibility locus at OAS1 that influences isoform switching, protein expression, and responsiveness to type I interferons.

PLoS Genet 2017 Jun 22;13(6):e1006820. Epub 2017 Jun 22.

Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1006820DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501660PMC
June 2017

Functional activation of PPARγ in human upper aerodigestive cancer cell lines.

Mol Carcinog 2017 01 21;56(1):149-162. Epub 2016 Mar 21.

Department of Otolaryngology, University of Minnesota, Minneapolis, Minnesota.

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http://dx.doi.org/10.1002/mc.22479DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5931704PMC
January 2017

Human effector B lymphocytes express ARID3a and secrete interferon alpha.

J Autoimmun 2016 Dec 10;75:130-140. Epub 2016 Aug 10.

Department of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA; Department of Microbiology and Immunology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA; Department of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jaut.2016.08.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5134920PMC
December 2016

Expression and methylation data from SLE patient and healthy control blood samples subdivided with respect to ARID3a levels.

Data Brief 2016 Dec 31;9:213-9. Epub 2016 Aug 31.

Department of Medicine, Oklahoma University Health Sciences Center, Oklahoma City, Oklahoma, USA; Department of Microbiology and Immunology, Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA; Department of Cell Biology, Oklahoma University Health Sciences Center, Oklahoma City, Oklahoma, USA.

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http://dx.doi.org/10.1016/j.dib.2016.08.049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5021782PMC
December 2016

X Chromosome Dose and Sex Bias in Autoimmune Diseases: Increased Prevalence of 47,XXX in Systemic Lupus Erythematosus and Sjögren's Syndrome.

Arthritis Rheumatol 2016 05;68(5):1290-1300

College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.

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http://dx.doi.org/10.1002/art.39560DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5019501PMC
May 2016

Gut Microbiome Diversity among Cheyenne and Arapaho Individuals from Western Oklahoma.

Curr Biol 2015 Dec 6;25(24):3161-9. Epub 2015 Dec 6.

Department of Anthropology, University of Oklahoma, Norman, OK 73019, USA; Laboratories of Molecular Anthropology and Microbiome Research, University of Oklahoma, Norman, OK 73019, USA; Center for Applied Social Research, University of Oklahoma, Norman, OK 73019, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cub.2015.10.060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4703035PMC
December 2015

The effect of inversion at 8p23 on BLK association with lupus in Caucasian population.

PLoS One 2014 29;9(12):e115614. Epub 2014 Dec 29.

Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center (CCHMC), 3333 Burnet Avenue, Cincinnati, OH, 45229, United States of America; University of Cincinnati, College of Medicine, Cincinnati, OH, United States of America; Department of Veteran Affairs Medical Center, Cincinnati, OH, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0115614PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4278715PMC
September 2015

The IRF5-TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share.

Hum Mol Genet 2015 Jan 8;24(2):582-96. Epub 2014 Sep 8.

Division of Rheumatology, Center for Autoimmune Genomics and Etiology and US Department of Veterans Affairs Medical Center, Cincinnati, OH, USA.

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http://dx.doi.org/10.1093/hmg/ddu455DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4275071PMC
January 2015

Forward genetic screening identifies a small molecule that blocks Toxoplasma gondii growth by inhibiting both host- and parasite-encoded kinases.

PLoS Pathog 2014 Jun 12;10(6):e1004180. Epub 2014 Jun 12.

Department of Microbiology and Immunology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, United States of America; Department of Microbiology and Immunology, University at Buffalo, Buffalo, New York, United States of America.

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http://dx.doi.org/10.1371/journal.ppat.1004180DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4055737PMC
June 2014

An enhancer element harboring variants associated with systemic lupus erythematosus engages the TNFAIP3 promoter to influence A20 expression.

PLoS Genet 2013 5;9(9):e1003750. Epub 2013 Sep 5.

Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1003750DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3764111PMC
March 2014

Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjögren's syndrome.

Nat Genet 2013 Nov 6;45(11):1284-92. Epub 2013 Oct 6.

1] Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA. [2] Department of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA.

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http://dx.doi.org/10.1038/ng.2792DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3867192PMC
November 2013

Infinium assay for large-scale SNP genotyping applications.

J Vis Exp 2013 Nov 19(81):e50683. Epub 2013 Nov 19.

Arthritis and Clinical Immunology, Oklahoma Medical Research Foundation.

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http://dx.doi.org/10.3791/50683DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3991437PMC
November 2013

Encore: Genetic Association Interaction Network centrality pipeline and application to SLE exome data.

Genet Epidemiol 2013 Sep 5;37(6):614-21. Epub 2013 Jun 5.

Tandy School of Computer Science, University of Tulsa, Tulsa, Oklahoma 74104, USA.

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http://dx.doi.org/10.1002/gepi.21739DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3955726PMC
September 2013

Effects of IRF5 lupus risk haplotype on pathways predicted to influence B cell functions.

J Biomed Biotechnol 2012 22;2012:594056. Epub 2012 Feb 22.

Arthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.

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http://dx.doi.org/10.1155/2012/594056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3304673PMC
September 2012

RBPJ mutations identified in two families affected by Adams-Oliver syndrome.

Am J Hum Genet 2012 Aug;91(2):391-5

Department of Pediatrics, University of Oklahoma Health Sciences Center, University of Oklahoma Children's Physicians Building, 1200 Children's Avenue, Oklahoma City, OK 73104, USA.

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http://dx.doi.org/10.1016/j.ajhg.2012.07.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3415535PMC
August 2012

WITHDRAWN: A female autoimmunity gene exists: DDX3X.

Med Hypotheses 2012 Aug 20. Epub 2012 Aug 20.

Arthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA; Department of Internal Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA; US Department of Veterans Affairs Medical Center, Oklahoma City, OK 73104, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03069877120033
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http://dx.doi.org/10.1016/j.mehy.2012.07.027DOI Listing
August 2012

Sex chromosome aneuploidies among men with systemic lupus erythematosus.

J Autoimmun 2012 May 6;38(2-3):J129-34. Epub 2011 Dec 6.

Department of Medicine, College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.

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http://dx.doi.org/10.1016/j.jaut.2011.10.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3309073PMC
May 2012

The genomics of autoimmune disease in the era of genome-wide association studies and beyond.

Autoimmun Rev 2012 Feb 7;11(4):267-75. Epub 2011 Oct 7.

Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73003, USA.

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http://dx.doi.org/10.1016/j.autrev.2011.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3288956PMC
February 2012

Contributions of mass spectrometry-based proteomics to defining cellular mechanisms and diagnostic markers for systemic lupus erythematosus.

Arthritis Res Ther 2012 Feb 20;14(1):204. Epub 2012 Feb 20.

Department of Biochemistry and Molecular Biology, University of Louisville School of Medicine, 570 South Preston St, Baxter Research Building I, Room 204E, Louisville, KY 40202, USA.

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http://dx.doi.org/10.1186/ar3701DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3392812PMC
February 2012

Development of type I genetic markers from expressed sequence tags in highly polymorphic species.

Mar Biotechnol (NY) 2011 Apr 23;13(2):127-32. Epub 2010 Mar 23.

Biotechnology Research Institute, National Fisheries Research and Development Institute, 408-1 Sirang-ri, Gijang-eup, Gijang-gun, Busan, 619-705, South Korea.

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http://dx.doi.org/10.1007/s10126-010-9280-4DOI Listing
April 2011

Exon 6 variants carried on systemic lupus erythematosus (SLE) risk haplotypes modulate IRF5 function.

Autoimmunity 2011 Mar 9;44(2):82-9. Epub 2010 Aug 9.

Arthritis and Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.

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http://dx.doi.org/10.3109/08916934.2010.491842DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3104271PMC
March 2011

Fragmentation of the large subunit ribosomal RNA gene in oyster mitochondrial genomes.

BMC Genomics 2010 Sep 2;11:485. Epub 2010 Sep 2.

College of Earth, Ocean, and Environment, University of Delaware, Lewes, DE, USA.

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http://dx.doi.org/10.1186/1471-2164-11-485DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2996981PMC
September 2010